Ana Margarida Medeiros


Estudante de Doutoramento / PhD student


 Projectos/Projects: EPFH 

Ana Medeiros é técnica superior no Instituto Nacional de Saúde Doutor Ricardo Jorge. 
É mestre em Química pelo Instituto Superior Técnico (Universidade de Lisboa, Portugal) e atualmente frequenta o doutoramento em Bioquímica (Faculdade de Ciências, Universidade de Lisboa, Portugal).
Desde 2005, é membro do Laboratório da Doutora Mafalda Bourbon (Grupo de Investigação Cardiovascular) e atualmente, é gestora do projeto do Estudo FH Português no Instituto Nacional de Saúde (Lisboa, Portugal). É membro colaborador do Instituto de Biosistemas & Ciências Integrativas (BioISI), Unidade de Investigação Biomédica e Tradução (Universidade de Lisboa, Portugal), membro do Painel de Peritos em Cura de Variantes de Hipercolesterolemia Familiar (biocurator) do Clinical Genome Resource (grupo de trabalho cardiovascular) e membro da Sociedade Europeia de Aterosclerose (EAS).

A sua área de atividade científica tem sido a genética cardiovascular e a aterosclerose, com especial interesse na Hipercolesterolemia Familiar (FH), tendo publicado mais de 20 publicações em revistas científicas especializadas (principalmente no quartil superior) e 1 capítulo de livro. O objetivo do seu projeto de doutoramento é identificar novas estratégias genéticas para a caracterização do fenótipo FH.
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Ana Medeiros is a senior technician at the National Institute of Health Doutor Ricardo Jorge. 
She has a Master's degree in Chemistry from the Instituto Superior Técnico (University of Lisbon, Portugal) and is currently doing her PhD in Biochemistry (Faculty of Sciences, University of Lisbon, Portugal).
Since 2005, she is a member of Mafalda Bourbon’s Lab (Cardiovascular Research Group) and currently is the project manager of the Portuguese FH Study at the National Institute of Health (Lisbon, Portugal). She is a collaborating member of the member of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical and Translation Research Unit (University of Lisbon, Portugal), member of the Familial Hypercholesterolemia Variant Curation Expert Panel (biocurator) at Clinical Genome Resource (cardiovascular working group) and member of the European Atherosclerosis Society (EAS).

Her area of scientific activity has been cardiovascular genetics and atherosclerosis, with special interest in Familial Hypercholesterolaemia (FH), having published more than 20 publications in specialized scientific journals (mainly in top quartile) and 1 book chapter. The aim of her PhD project is to identify novel genetic strategies for the characterization of the FH phenotype.
Principais Publicações/Main Publications:

Unravelling the genetic background of individuals with a clinical Familial Hypercholesterolemia phenotype.


A. Medeiros, A. Alves, B. Miranda, J. Chora, M. Bourbon

Journal of Lipid Research, vol. 65(2), 2024 Feb, p. 100490


Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?


A. Medeiros, M. Bourbon

Current Atherosclerosis Reports, vol. 25(4), 2023 Apr, pp. 127-132


Polygenic contribution for familial hypercholesterolemia (FH)


A. Medeiros, M. Bourbon

Current opinion in lipidology, vol. 32(6), 2021, pp. 392-395


Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement


A. Medeiros, A. Alves, M. Bourbon

Genetics in Medicine, vol. 18(4), 2016 Apr 1, pp. 316-324


Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia


A. Medeiros, A. Alves, P. Aguiar, M. Bourbon

Journal of Lipid Research, vol. 55(5), 2014 May 1, pp. 947-955


Update of the Portuguese Familial Hypercholesterolaemia Study.


A. Medeiros, A. Alves, V. Francisco, M. Bourbon, on behalf of the investigators of the Portuguese FH Study

Atherosclerosis, vol. 212(2), 2010 Oct 1, pp. 553-558

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